rs81002874
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
(G;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs81002874(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32363178 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs81002874 |
dbSNP (classic) | rs81002874 |
ClinGen | rs81002874 |
ebi | rs81002874 |
HLI | rs81002874 |
Exac | rs81002874 |
Gnomad | rs81002874 |
Varsome | rs81002874 |
LitVar | rs81002874 |
Map | rs81002874 |
PheGenI | rs81002874 |
Biobank | rs81002874 |
1000 genomes | rs81002874 |
hgdp | rs81002874 |
ensembl | rs81002874 |
geneview | rs81002874 |
scholar | rs81002874 |
rs81002874 | |
pharmgkb | rs81002874 |
gwascentral | rs81002874 |
openSNP | rs81002874 |
23andMe | rs81002874 |
SNPshot | rs81002874 |
SNPdbe | rs81002874 |
MSV3d | rs81002874 |
GWAS Ctlg | rs81002874 |
Max Magnitude | 6 |
rs81002874, known as both c.7977-1G>T and c.7977-1G>C, is a rare mutation in the BRCA2 gene.
Both minor alleles are considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs81002874(A;A) rs81002874(C;C) rs81002874(T;T) |
Alt | rs81002874(A;A) rs81002874(C;C) rs81002874(T;T) |
Reference | Rs81002874(G;G) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32937315G>A; NC_000013.10:g.32937315G>C; NC_000013.10:g.32937315G>T |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000258445.1, RCV000031714.6, RCV000045368.5, RCV000162588.2, RCV000486971.1, RCV000113850.1, RCV000197791.1, |